New Horizons on the Diagnosis of Hereditary Ataxia

Movement Disorders Clinical PracticeEarly View IN FOCUS New Horizons on the Diagnosis of Hereditary Ataxia Luiz Eduardo Novis MD, Corresponding Author Luiz Eduardo Novis MD [email protected] Neurodegenerative Diseases Group, Post-Graduate Program in Internal Medicine, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil Correspondence to: Luiz Eduardo Novis, Neurodegenerative Diseases Group, Post-Graduate Program in Internal Medicine, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil; E-mail: [email protected]Search for more papers by this authorSalmo Raskin MD, PhD, Salmo Raskin MD, PhD Postgraduate Program in Child and Adolescent, Department of Pediatrics, Federal University of Paraná, Curitiba, BrazilSearch for more papers by this authorHelio A.G. Teive MD, PhD, Helio A.G. Teive MD, PhD Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, BrazilSearch for more papers by this author Luiz Eduardo Novis MD, Corresponding Author Luiz Eduardo Novis MD [email protected] Neurodegenerative Diseases Group, Post-Graduate Program in Internal Medicine, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil Correspondence to: Luiz Eduardo Novis, Neurodegenerative Diseases Group, Post-Graduate Program in Internal Medicine, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil; E-mail: [email protected]Search for more papers by this authorSalmo Raskin MD, PhD, Salmo Raskin MD, PhD Postgraduate Program in Child and Adolescent, Department of Pediatrics, Federal University of Paraná, Curitiba, BrazilSearch for more papers by this authorHelio A.G. Teive MD, PhD, Helio A.G. Teive MD, PhD Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, BrazilSearch for more papers by this author First published: 31 August 2023 https://doi.org/10.1002/mdc3.13877Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Byrska-Bishop M, Evani US, Zhao X, et al. High-coverage whole-genome sequencing of the expanded 1000 genomes project cohort including 602 trios. Cell 2022; 185(18): 3426–3440.e19. https://doi.org/10.1016/j.cell.2022.08.004. 2 ENCODE Project Consortium, Moore JE, Purcaro MJ, et al. Expanded encyclopaedias of DNA elements in the human and mouse genomes. Nature 2020; 583(7818): 699–710. https://doi.org/10.1038/s41586-020-2493-4. 3Tenney AP, Di Gioia SA, Webb BD, et al. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nat Genet 2023; 55(7): 1149–1163. https://doi.org/10.1038/s41588-023-01424-9. 4Chen Z, Tucci A, Cipriani V, et al. Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia. Brain 2023; 146(7): 2869–2884. 5Pellerin D, Danzi MC, Wilke C, et al. Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia. N Engl J Med. 2023; 388(2): 128–141. https://doi.org/10.1056/NEJMoa2207406. 6Zeng YH, Gan SR, Chen WJ. Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia. N Engl J Med 2023; 388(21):e70. https://doi.org/10.1056/NEJMc2301605. 7 Yang Z, Yang X, Sun Y, et al. Test development, optimization and validation of a WGS pipeline for genetic disorders. BMC Med Genomics 2023; 16(1):74. https://doi.org/10.1186/s12920-023-01495-x. Early ViewOnline Version of Record before inclusion in an issue ReferencesRelatedInformation